1.Endoscopic surgical outcomes of meningoencephalocele and cerebrospinal fluid leaks of frontal sinus: a single medical center retrostpective analysis
Zhenxiao HUANG ; Qian HUANG ; Shunjiu CUI ; E QIU ; Peng YANG ; Jingying MA ; Bentao YANG ; Min CHEN ; Liang YU ; Bing ZHOU
Chinese Journal of Otorhinolaryngology Head and Neck Surgery 2024;59(11):1143-1151
Objective:To analyze the efficacy of endoscopic surgery for frontal sinus meningoencephalocele and cerebrospinal fluid (CSF) leaks, and to explore endoscopic surgical strategy.Methods:A total of 35 patients with frontal sinus meningoencephalocele and CSF leaks who underwent endoscopic transnasal surgery at Beijing Tongren Hospital, Capital Medical University between May 2007 and December 2023 were enrolled in this retrospective case series, including 29 males and 6 females, with the age of (35.23±15.76) years. High-resolution sinus CT and magnetic resonance cisternography were undertaken before surgery. The primary outcome measure was the success rate of endoscopic surgical repair. Statistical analysis was conducted using SPSS 27 and GraphPad Prism 8 software.Results:Of the 35 cases, 21 (60.0%) were traumatic, and 14 (40.0%) were non-traumatic. The most common defect was in the posterior frontal sinus wall (24 cases, 68.6%), with a defect size of (10.4±4.8) mm 2. Twenty-six cases (74.3%) underwent endoscopic transnasal Draf Ⅱa-Ⅲ frontal sinusotomy, and 9 cases (25.7%) underwent endoscopic transnasal Darf Ⅱb-Ⅲ frontal sinusotomy combined with frontal trephination. The average follow-up time was (84.72±57.42) months. The success rate of one-time endoscopic repair was 97.1% (34/35). One patient required a second procedure, resulting in an overall success rate of 100%. Thirty-three patients had a widely patent frontal sinus ostium postoperatively, while two experienced stenosis. Conclusions:Endoscopic surgery is effective for treating frontal meningoencephalocele and CSF leaks while preserving frontal sinus drainage. Combined frontal trephination is recommended for defects that are difficult to repair using the conventional transnasal approach.
2. Relationship between Fok polymorphism of vitamin-D receptor gene and hypertensive disorder complicating pregnancy in Han nationality of Qinghai province
Zhen WU ; Qian DUAN ; Ming YUAN ; Xue-Ni WANG ; Wen-Jing CHEN ; Jian-Hua LI ; Zhen WU ; Yu-Qin LI ; Yu-Qin E-LUO-JI
Acta Anatomica Sinica 2023;54(3):313-318
[ Abstract] Objective To investigate the relationship between single nucleotide polymorphism (SNP) Fok (rs2228570 / rs10735810) of vitamin D receptor (VDR) gene and hypertensive disorder complicating pregnancy (HDCP) in Han nationality women of Qinghai province. Methods A total of 137 Han nationality HDCP subjects (HDCP group) and 146 Han nationality normal pregnant subjects (control group) were selected from Qinghai province. The Fok polymorphism typing in HCDP group and control group was analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) . The mutation was confirmed by sequencing. SPSS 19. 0 statistical software was used to test whether there were significant differences between two groups in general clinical data, genotype and allele frequency distribution. Results The frequency of FF Ff ff genotype of Fok in HDCP group and control group were 51. 82%, 37. 96%, 10. 22% and 34. 93%, 43. 15%, 21. 92% respectively (
3.To compare the efficacy and incidence of severe hematological adverse events of flumatinib and imatinib in patients newly diagnosed with chronic phase chronic myeloid leukemia.
Xiao Shuai ZHANG ; Bing Cheng LIU ; Xin DU ; Yan Li ZHANG ; Na XU ; Xiao Li LIU ; Wei Ming LI ; Hai LIN ; Rong LIANG ; Chun Yan CHEN ; Jian HUANG ; Yun Fan YANG ; Huan Ling ZHU ; Ling PAN ; Xiao Dong WANG ; Gui Hui LI ; Zhuo Gang LIU ; Yan Qing ZHANG ; Zhen Fang LIU ; Jian Da HU ; Chun Shui LIU ; Fei LI ; Wei YANG ; Li MENG ; Yan Qiu HAN ; Li E LIN ; Zhen Yu ZHAO ; Chuan Qing TU ; Cai Feng ZHENG ; Yan Liang BAI ; Ze Ping ZHOU ; Su Ning CHEN ; Hui Ying QIU ; Li Jie YANG ; Xiu Li SUN ; Hui SUN ; Li ZHOU ; Ze Lin LIU ; Dan Yu WANG ; Jian Xin GUO ; Li Ping PANG ; Qing Shu ZENG ; Xiao Hui SUO ; Wei Hua ZHANG ; Yuan Jun ZHENG ; Qian JIANG
Chinese Journal of Hematology 2023;44(9):728-736
Objective: To analyze and compare therapy responses, outcomes, and incidence of severe hematologic adverse events of flumatinib and imatinib in patients newly diagnosed with chronic phase chronic myeloid leukemia (CML) . Methods: Data of patients with chronic phase CML diagnosed between January 2006 and November 2022 from 76 centers, aged ≥18 years, and received initial flumatinib or imatinib therapy within 6 months after diagnosis in China were retrospectively interrogated. Propensity score matching (PSM) analysis was performed to reduce the bias of the initial TKI selection, and the therapy responses and outcomes of patients receiving initial flumatinib or imatinib therapy were compared. Results: A total of 4 833 adult patients with CML receiving initial imatinib (n=4 380) or flumatinib (n=453) therapy were included in the study. In the imatinib cohort, the median follow-up time was 54 [interquartile range (IQR), 31-85] months, and the 7-year cumulative incidences of CCyR, MMR, MR(4), and MR(4.5) were 95.2%, 88.4%, 78.3%, and 63.0%, respectively. The 7-year FFS, PFS, and OS rates were 71.8%, 93.0%, and 96.9%, respectively. With the median follow-up of 18 (IQR, 13-25) months in the flumatinib cohort, the 2-year cumulative incidences of CCyR, MMR, MR(4), and MR(4.5) were 95.4%, 86.5%, 58.4%, and 46.6%, respectively. The 2-year FFS, PFS, and OS rates were 80.1%, 95.0%, and 99.5%, respectively. The PSM analysis indicated that patients receiving initial flumatinib therapy had significantly higher cumulative incidences of CCyR, MMR, MR(4), and MR(4.5) and higher probabilities of FFS than those receiving the initial imatinib therapy (all P<0.001), whereas the PFS (P=0.230) and OS (P=0.268) were comparable between the two cohorts. The incidence of severe hematologic adverse events (grade≥Ⅲ) was comparable in the two cohorts. Conclusion: Patients receiving initial flumatinib therapy had higher cumulative incidences of therapy responses and higher probability of FFS than those receiving initial imatinib therapy, whereas the incidence of severe hematologic adverse events was comparable between the two cohorts.
Adult
;
Humans
;
Adolescent
;
Imatinib Mesylate/adverse effects*
;
Incidence
;
Antineoplastic Agents/adverse effects*
;
Retrospective Studies
;
Pyrimidines/adverse effects*
;
Leukemia, Myelogenous, Chronic, BCR-ABL Positive/drug therapy*
;
Treatment Outcome
;
Benzamides/adverse effects*
;
Leukemia, Myeloid, Chronic-Phase/drug therapy*
;
Aminopyridines/therapeutic use*
;
Protein Kinase Inhibitors/therapeutic use*
4.Clinical Features and Prognosis of Multiple Myeloma Patients with Secondary Primary Malignancies.
Ling-Ling LI ; Meng-Lin LI ; Yu ZHANG ; Yu LIU ; Yan-Fang LIU ; Zhong-Xing JIANG ; Shao-Qian CHEN ; Shu-Juan WANG ; Chong WANG
Journal of Experimental Hematology 2023;31(2):429-434
OBJECTIVE:
To explore the clinical characteristics and prognosis of multiple myeloma(MM) patients with secondary primary malignancies.
METHODS:
The clinical data of newly diagnosed MM patients admitted to the First Affiliated Hospital of Zhengzhou University from January 2011 to December 2019 were retrospectively analyzed. The patients with secondary primary malignancies were retrieved, and their clinical features and prognosis were evaluated.
RESULTS:
A total of 1 935 patients with newly diagnosed MM were admitted in this period, with a median age of 62 (18-94) years old, of which 1 049 cases were hospitalized twice or more. There were eleven cases with secondary primary malignancies (the incidence rate was 1.05%), including three cases of hematological malignancies (2 cases of acute myelomonocytic leukemia and 1 case of acute promyelocytic leukemia) and eight cases of solid tumors (2 cases of lung adenocarcinoma, and 1 case each of endometrial cancer, esophageal squamous cell carcinoma, primary liver cancer, bladder cancer, cervical squamous cell carcinoma, and meningioma). The median age of onset was 57 years old. The median time between diagnosis of secondary primary malignancies and diagnosis of MM was 39.4 months. There were seven cases with primary or secondary plasma cell leukemia, the incidence rate was 0.67%, and the median age of onset was 52 years old. Compared with the randomized control group, the β2-microglobulin level in the secondary primary malignancies group was lower (P=0.028), and more patients were in stage I/II of ISS (P=0.029). Among the 11 patients with secondary primary malignancies, one survived, ten died, and the median survival time was 40 months. The median survival time of MM patients after the secondary primary malignancies was only seven months. All seven patients with primary or secondary plasma cell leukemia died, with a median survival time of 14 months. The median overall survival time of MM patients with secondary primary malignancies was longer than that of the patients with plasma cell leukemia (P=0.027).
CONCLUSION
The incidence rate of MM with secondary primary malignancies is 1.05%. MM patients with secondary primary malignancies have poor prognosis and short median survival time, but the median survival time is longer than that of patients with plasma cell leukemia.
Humans
;
Middle Aged
;
Aged
;
Aged, 80 and over
;
Multiple Myeloma/complications*
;
Leukemia, Plasma Cell
;
Retrospective Studies
;
Esophageal Neoplasms/complications*
;
Esophageal Squamous Cell Carcinoma/complications*
;
Prognosis
;
Neoplasms, Second Primary
5.Efficacy and Safety of Decitabine Combined with Modified CAG Regimen in Patients Aged ≥ 70 Years with Newly Diagnosed Acute Myeloid Leukemia.
Lan CAO ; Zhao-Qing JIANG ; Wen-Jie LIU ; Qian SUN ; Yu ZHU ; Jian-Yong LI ; Si-Xuan QIAN ; Ming HONG
Journal of Experimental Hematology 2023;31(3):633-642
OBJECTIVE:
To evaluate the clinical efficacy and safety of decitabine combined with modified CAG regimen (D-CAG regimen) in patients aged ≥70 years with newly diagnosed acute myeloid leukemia (AML).
METHODS:
The clinical data of 59 AML patients (≥70 years old) who were newly diagnosed and treated in the Hematology Department of the First Affiliated Hospital of Nanjing Medical University from November 2010 to June 2021 were retrospectively analyzed.
RESULTS:
Among the 59 AML patients, 28 were males and 31 were females, with a median age of 74 (70-86) years. The complete remission (CR) rate was 69.4% (34/49), and the median duration of CR was 10.7 (0.6-125.4) months after 2 courses of D-CAG treatment. According to the British Medical Research Council (MRC) classification, there was only one patient in the favorable-risk group, and the CR rate was 71.8% (28/39) in the intermediate-risk group, and 55.6% (5/9) in the adverse-risk group, respectively. There was no statistical difference in the CR rate between the intermediate-risk and adverse-risk group. Referring to ELN 2017 genetic risk classification, CR rate was 88.2% (15/17) in the favorable-risk group, 45.5% (5/11) in the intermediate-risk group, and 66.7% (14/21) in the adverse-risk group. There was no significant difference in CR rate between the favorable-risk and adverse-risk categories, but both were significantly higher than that in the intermediate-risk group (P <0.05). Next-generation sequencing (NGS) analysis showed that 11 gene mutations with a frequency of more than 10%, including TET2 mutation (35.6%), ASXL1 mutation (30.5%), NPM1 mutation (28.8%), FLT3-ITD mutation (27.1%), DNMT3A mutation (22.0%), IDH1 mutation (15.3%), CEBPA single mutation (13.6%), TP53 mutation (13.6%), IDH2 mutation (11.9%), RUNX1 mutation (11.9%), and NRAS mutation (10.2%). There were no statistical differences in mutation frequency of these 11 genes between CR group and non-CR group. Compared with normal karyotypes, patients with complex karyotypes were more likely to develop TP53 mutations (P <0.001), while FLT3-ITD and DNMT3A mutations were more likely to occur in patients with normal karyotypes (P =0.04, P =0.047). The median follow-up, overall survival (OS), and event-free survival (EFS) of all the patients was 11.7 (1.5-128.2) months, 12.3 (1.5-128.2) months, and 8.5 (1.5-128.2) months, respectively. The median OS and EFS of CR patients were 19.8 and 13.3 months, respectively, which were significantly longer than 6.4 and 5.7 months in patients experiencing treatment failure (P < 0.001, P =0.009). In regard to genes with mutation frequency >10%, there were no statistical differences in CR rate, median OS, and median EFS between mutated and wild-type patients by Chi-square test and survival analysis. Univariate analysis showed that age, hemoglobin, lactate dehydrogenase, cytogenetics and CR were factors affecting prognosis, while multivariate analysis showed that only CR failure was an independent adverse prognostic factor for OS. The major adverse reactions to D-CAG regimen were grade 3-4 myelosuppression, pulmonary infection, and fever (infection focus was not identified).
CONCLUSION
D-CAG regimen is safe and effective in the treatment of AML patients ≥70 years old, and can partially improve the prognosis of elderly and high-risk patients.
Aged
;
Male
;
Female
;
Humans
;
Aged, 80 and over
;
Decitabine/therapeutic use*
;
Retrospective Studies
;
Cytarabine/therapeutic use*
;
Prognosis
;
Mutation
;
Leukemia, Myeloid, Acute/genetics*
6.Influence of Pre-treatment Lymphocyte/Monocyte Ratio and Neutrophil/Lymphocyte Ratio on the Prognosis of Patients with Extranodal NK/T-Cell Lymphoma.
Xiao-Yu DENG ; Ying-Yi WANG ; Qian-Qian DANG ; Tian-Song LIANG ; Ying-Juan ZHENG ; Dao-Ke YANG
Journal of Experimental Hematology 2023;31(3):707-713
OBJECTIVE:
To explore the influence of lymphocyte-to-monocyte ratio (LMR) and neutrophil-to-lymphocyte ratio (NLR) on the prognosis of patients with extranodal NK/T cell lymphoma (ENKTL).
METHODS:
The clinical data of 203 patients with ENKTL admitted to the First Affiliated Hospital of Zhengzhou University from January 2011 to January 2020 were retrospectively analyzed. The ROC curve determined the limit values of LMR and NLR; Categorical variables were compared using a chi-square test, expressed as frequency and percentage (n,%). Continuous variables were expressed as medians and extremes and compared with the Mann-Whitney U test; Progression-free survival (PFS) and overall survival (OS) of different grouped LMR and NLR patients were analyzed using Kaplan-Meier curves and compared with log-rank tests. The COX proportional risk regression model was used to perform one-factor and multi-factor analysis of PFS and OS.
RESULTS:
The optimal critical values of LMR and NLR were determined by the ROC curve, which were 2.60 and 3.40, respectively. LMR≤2.60 was more likely to occur in patients with bone marrow invasion (P=0.029) and higher LDH (P=0.036), while NLR≥3.40 was more likely to occur in patients with higher ECOG scores (P=0.002), higher LDH (P=0.008), higher blood glucose (P=0.024), and lower PLT (P=0.010). Kaplan-Meier survival analysis showed that PFS and OS of patients in the high LMR group were significantly better than the low LMR group, while PFS and OS in the low NLR group were significantly better than the high NLR group. The results of multivariate COX analysis showed that EBV-DNA positive (P=0.047), LMR≤2.60 (P=0.014), NLR≥3.40 (P=0.023) were independent risk factors affecting PFS in patients with ENKTL. LMR≤2.60 (P<0.001), NLR≥3.40 (P=0.048), and high β2-MG (P=0.013) were independent risk factors affecting OS in patients with ENKTL.
CONCLUSION
Low LMR and high NLR before treatment are associated with poor prognosis in patients with ENKTL, which also can be used as an easily testable, inexpensive, and practical prognostic indicator in the clinic.
Humans
;
Monocytes/pathology*
;
Neutrophils
;
Lymphoma, Extranodal NK-T-Cell/pathology*
;
Retrospective Studies
;
Lymphocytes
;
Prognosis
7.Application of information health education combined with teach-back method in patients with posterior fossa tumors during perioperative period
Pei WANG ; Yuxin ZHAN ; Peng YU ; Bing LI ; Han′e YI ; Ruitian QIAN
Chinese Journal of Practical Nursing 2023;39(30):2352-2358
Objective:To analyze the application effect of information health education combined with teach-back method in patients with posterior fossa tumor during perioperative period and provide experience and reference for clinical practice.Methods:From March 2022 to October 2022, a total of 80 patients diagnosed as posterior fossa tumors in the neurosurgery department were divided into a control group and an experimental group, with 40 patients in each group to conduct an experimental research, based on the length of hospitalization. The control group was given the conventional health education combined with the teach-back method, and the experimental group was given the information health education combined with the teach-back method. The scores of standard swallowing assessment, quality of life, awareness score of health education and incidence of respiratory aspiration were compared between the two groups.Results:On the 7th day after surgery and 1 day before discharge, the standard swallowing score of the experimental group were 25.29 ± 2.21 and 22.97 ± 3.36, which was significantly lower than that of the control group 26.45 ± 2.01 and 24.92 ± 3.56, ( t=2.44, 2.52, both P<0.05). The total score of quality of life on the day before discharge was 64.55 ± 4.27, significantly higher than 61.80 ± 4.82 in the control group, with a statistically significant difference ( t=-2.09, P<0.05). The patients in the experimental group were familiar with preoperative guidance, various dietary requirements, various drug effects and precautions, the prevention of various complications, various rehabilitation training methods, and the purpose and precautions of the head drainage tube, with the score of 4.70 ± 0.56, 4.52 ± 0.71, 4.65 ± 0.57, 4.67 ± 0.52, 4.72 ± 0.50, 4.77 ± 0.47, were higher than the control group 3.40 ± 1.05, 3.62 ± 0.97, 3.77 ± 0.94, 3.80 ± 0.88, 3.75 ± 0.89, 3.92 ± 0.88. The difference was statistically significant ( t values were -6.86 to -4.69, all P<0.05). The incidence of respiratory aspiration in experimental group was 0, significantly lower than that in control group 12.5%(5/40) ( χ2=5.33, P<0.05). Conclusions:The application of information health education combined with back teaching can improve the quality of life, health education awareness rate and reduce the incidence of aspiration in patients with posterior fossa tumor.
8.Comparison of Acute Graft-Versus-Host Disease Mouse Models Established by TBI and BU/CY Conditioning Regimens.
Qian ZHANG ; Ying-Xue LU ; Chao XUE ; Qing-Yuan QU ; Yu-Jie JIANG
Journal of Experimental Hematology 2022;30(4):1248-1254
OBJECTIVE:
To investigate the effect of acute graft-versus-host disease (aGVHD) mouse models established respectively by total body irradiation (TBI) and busulfan combined with cyclophosphamide (BU/CY) conditioning regimens after allogeneic hematopoietic stem cell transplantation (allo-HSCT).
METHODS:
Bone marrow cells and splenic mononuclear cells were isolated respectively from femur, tibia, and spleen of C57BL/6 male mice (H-2Kb) which were selected as donors. After TBI pretreatment, BALB/c female mice (H-2Kd) were injected with donor bone marrow cells 1×107/50 μl and splenic mononuclear cells 2×107/100 μl through caudal vein, while CB6F1 female mice (H-2Kd/b) with donor bone marrow cells 2×107/100 μl and splenic mononuclear cells 1×108/500 μl after BU/CY pretreatment. The successful establishment of the aGVHD models were determined by post-transplant manifestations, rate of chimerism, target organ damage, etc. Results: After transplantation, mice of both groups showed listlessness, low activity, continued weight loss, and typical manifestations of aGVHD such as alopecia, hunched posture, diarrhea, and anal swelling. and died within 4 weeks. Flow cytometry detection showed complete chimerism in all the mice. Pathological examination of skin, intestines, liver, lung, and spleen tissues showed obvious aGVHD pathological changes. However, the weight loss, ruffled fur, and alopecia combined with severe scurf on those hair-free areas were significantly apparent in TBI group than BU/CY group, as well as higher aGVHD score, and the differences were statistically significant (P<0.05).
CONCLUSION
Both TBI and BU/CY as conditioning regimens can successfully establish stable mouse models of aGVHD after fully allo-HSCT and haploidentical HSCT for further research about mechanism of aGVHD. BU/CY conditioning regimen can more truly simulate physiological status in vivo of patients with chemotherapy based conditioning regimen, while TBI conditioning regimen shows significantly more typical aGVHD symptoms and easier to operate.
Alopecia/drug therapy*
;
Animals
;
Busulfan/therapeutic use*
;
Cyclophosphamide
;
Female
;
Graft vs Host Disease/drug therapy*
;
Hematopoietic Stem Cell Transplantation
;
Male
;
Mice
;
Mice, Inbred BALB C
;
Mice, Inbred C57BL
;
Transplantation Conditioning
;
Transplantation, Homologous
;
Weight Loss
;
Whole-Body Irradiation
9.Governor vessel moxibustion combined with warming acupuncture for knee osteoarthritis with yang deficiency and cold congelation based on the supporting-yang theory.
Xiu-E HONG ; Lin-Yun ZHANG ; Wang LIN ; Yin-Ying LIN ; Qian-Lin LIN ; Ding-Yu ZHU ; Xin XU ; Ming-Xia WU
Chinese Acupuncture & Moxibustion 2022;42(12):1357-1362
OBJECTIVE:
To compare the clinical efficacy between governor vessel moxibustion combined with warming acupuncture based on the supporting-yang theory and simple warming acupuncture for knee osteoarthritis (KOA) with yang deficiency and cold congelation.
METHODS:
A total of 64 patients with KOA of yang deficiency and cold congelation were randomized into a combination group (32 cases, 2 cases dropped off) and a warming acupuncture group (32 cases, 1 case dropped off). In the warming acupuncture group, warming acupuncture was applied at Zusanli (ST 36), Guanyuan (CV 4) and Dubi (ST 35), Neixiyan (EX-LE 4), etc. on the affected side, once a day. On the basis of the treatment in the warming acupuncture group, governor vessel moxibustion was applied in the combination group, once a week. The 14-day treatment was taken as one course, and totally 2 courses with 2-day interval were required in the two groups. The clinical symptom score, the visual analogue scale (VAS) score and the Western Ontario and McMaster Universities arthritis index (WOMAC) score were observed before treatment, after treatment and in the follow-up of 12 weeks after treatment; the volume of suprapatellar bursa effusion was detected before and after treatment; the clinical efficacy was evaluated after treatment and in the follow-up in the two groups.
RESULTS:
After treatment and in the follow-up, the scores of clinical symptom, VAS and WOMAC were decreased compared before treatment in both groups (P<0.05), and those in the combination group were lower than the warming acupuncture group (P<0.05). After treatment, the volume of suprapatellar bursa effusion was decreased compared before treatment in both groups (P<0.05). After treatment and in the follow-up, the total effective rates were 93.3% (28/30) and 86.7% (26/30) in the combination group, which were superior to 87.1% (27/31) and 74.2% (23/31) in the warming acupuncture group respectively (P<0.05).
CONCLUSION
Governor vessel moxibustion combined with warming acupuncture can improve the clinical symptoms i.e. pain and dysfunction and reduce the volume of suprapatellar bursa effusion in KOA patients with yang deficiency and cold congelation, its short-term effect and long-term effect are both superior to simple warming acupuncture.
Humans
;
Universities
;
Yang Deficiency/therapy*
10.Detection of NPM1 Mutation in Acute Myeloid Leukemia by Droplet Digital PCR and Its Clinical Application Value.
Ye JIN ; Shi Sen WANG ; Pei Hui XIA ; Qian YUAN ; Gao Fei XIAO ; Jiang LIN ; Jia Yan LENG ; Yu Juan MA ; Jun QIAN
Journal of Experimental Hematology 2022;30(3):653-658
OBJECTIVE:
To establish the droplet digital PCR (ddPCR) assay for the detection of NPM1 type A mutation in patients with acute myeloid leukemia (AML), and to evaluate its specificity, sensitivity and its value in clinical application.
METHODS:
NPM1 mutant and wildtype plasmids were used to verify the performance of ddPCR. Both ddPCR and Sanger sequencing were used to detect the bone marrow samples of 87 AML patients, which were confirmed by next generation sequencing (NGS). Moreover, NPM1 mutation burden was dynamically monitored in five patients by ddPCR.
RESULTS:
The limit of blank (LOB) of ddPCR established for NPM1 mutation detection was 1.1 copies/μl, and the limit of detection (LOD) was 2.43 copies/μl, which had good linearity. Among the 87 newly diagnosed AML patients, ddPCR identified seventeen cases positive for NPM1 mutation (19.5%), which was consistent with Sanger sequencing. NGS confirmed 12 positive cases, including 8 of type A mutations, 2 of type D mutations, and 2 of rare type mutations. The results of dynamic monitoring of NPM1 mutation burden in 5 patients showed that the NPM1 mutation burden decreased obviously even close to 0, when patients achieve complete remission after chemotherapy. However, the mutation burden was increased again at the time of relapse.
CONCLUSION
In this study, we established a ddPCR method for detection of NPM1 mutation with good sensitivity and repeatability, which can be used for screening NPM1 mutation in newly diagnosed AML patients and for minimal residual disease monitoring after remission in positive AML patients to guide treatment.
Humans
;
Leukemia, Myeloid, Acute/therapy*
;
Mutation
;
Nuclear Proteins/genetics*
;
Nucleophosmin
;
Polymerase Chain Reaction
;
Prognosis

Result Analysis
Print
Save
E-mail